TSC2
HGNC:12363 · SaudiVarKB evidence summary derived from retained literature mentions.
14Gene mentions
14Publications
0Linked variants
7Associated phenotypes
Associated phenotypes
Co-mentioned in TSC2 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| epilepsy | HP:0001250 | 7 | 7 |
| polycystic kidney disease | — | 2 | 2 |
| intellectual disability | HP:0001249 | 1 | 1 |
| cystic fibrosis | — | 1 | 1 |
| developmental delay | HP:0001263 | 1 | 1 |
| renal failure | — | 1 | 1 |
| colorectal cancer | — | 1 | 1 |
Linked variants
Variants normalized to TSC2| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
| Not specified | — | 23 | 1 |
| Saudi Arabia | — | 88 | 1 |
| Saudi Arabia | — | 11 | 1 |
| Not specified | — | 38 | 1 |
| Saudi Arabia | — | 61 | 1 |
| Saudi Arabia | — | 16 | 1 |
| Saudi Arabia | — | 1,000 | 1 |
Supporting publications
14 records- 2026Early use of everolimus for neonatal cardiac rhabdomyoma: a pharmacotherapeutic case with pharmacist-led monitoring.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical SocietyPubMed ↗
- 2026Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex.BMC pediatricsPubMed ↗
- 2025Vitexin's Role in Colon Cancer Apoptosis: AMPK/mTOR Pathway Modulation Explored Through Experimental and Computational Approaches.Recent patents on anti-cancer drug discoveryPubMed ↗
- 2025Renal Cell Carcinoma in a Girl With Tuberous Sclerosis Due to a New Mutation.Journal of medical casesPubMed ↗
- 2024Sporadic subependymal giant cell astrocytoma with somatic TSC2 mutation: A case report.Neurosciences (Riyadh, Saudi Arabia)PubMed ↗
- 2024Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience.Neurosciences (Riyadh, Saudi Arabia)PubMed ↗
- 2024Central nervous system manifestations of tuberous sclerosis complex: A single centre experience in Qatar.Saudi medical journalPubMed ↗
- 2022Diagnostic features of tuberous sclerosis complex: case report and literature review.Quantitative imaging in medicine and surgeryPubMed ↗
- 2022Identification of epilepsy concomitant candidate genes recognized in Saudi epileptic patients.European review for medical and pharmacological sciencesPubMed ↗
- 2022High incidence of PI3K pathway gene mutations in South Indian cervical cancers.Cancer geneticsPubMed ↗
- 2022Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.Medicina (Kaunas, Lithuania)PubMed ↗
- 2021The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort.Child neurology openPubMed ↗
- 2019Exome sequencing of Saudi Arabian patients with ADPKD.Renal failurePubMed ↗
- 2018Tuberous Sclerosis Complex: Clinical Spectrum and Epilepsy: A Retrospective Chart Review Study.Translational neurosciencePubMed ↗